Marta Verby
Directorate-General for Interpretation(BE)
Publications by Year
Research Areas
Folate and B Vitamins Research, Amino Acid Enzymes and Metabolism, Metabolism and Genetic Disorders, Genomics and Rare Diseases, RNA and protein synthesis mechanisms
Most-Cited Works
- → A framework for exhaustively mapping functional missense variants(2017)230 cited
- → Pooled‐matrix protein interaction screens using Barcode Fusion Genetics(2016)126 cited
- → Multiplexed measurement of variant abundance and activity reveals VKOR topology, active site and human variant impact(2020)101 cited
- → Transcriptome-Wide Off-Target Effects of Steric-Blocking Oligonucleotides(2021)87 cited
- → A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase(2020)79 cited
- → Shifting landscapes of human MTHFR missense-variant effects(2021)79 cited
- → An RNA foundation model enables discovery of disease mechanisms and candidate therapeutics(2023)27 cited
- → Mapping DNA damage‐dependent genetic interactions in yeast via party mating and barcode fusion genetics(2018)26 cited
- → A web application and service for imputing and visualizing missense variant effect maps(2019)24 cited
- → ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping(2020)21 cited